HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.

Abstract
Exome sequencing identified compound heterozygous mutations in the recently discovered mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene in two sisters with mild Leigh syndrome and combined respiratory chain deficiency. The mutations lead to undetectable levels of the MTFMT protein. Blue native polyacrylamide gel electrophoresis showed decreased complexes I and IV, and additional products stained with complex V antibodies, however the overall steady state level of mt-tRNA(Met) was normal. Our data illustrate that exome sequencing is an excellent diagnostic tool, and its value in clinical medicine is enormous, however it can only be optimally exploited if combined with detailed phenotyping and functional studies.
AuthorsVivienne C M Neeve, Angela Pyle, Veronika Boczonadi, Aurora Gomez-Duran, Helen Griffin, Mauro Santibanez-Koref, Ulrike Gaiser, Peter Bauer, Andreas Tzschach, Patrick F Chinnery, Rita Horvath
JournalMitochondrion (Mitochondrion) Vol. 13 Issue 6 Pg. 743-8 (Nov 2013) ISSN: 1872-8278 [Electronic] Netherlands
PMID23499752 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved. All rights reserved.
Chemical References
  • DNA Primers
Topics
  • Base Sequence
  • Blotting, Northern
  • Child
  • Child, Preschool
  • DNA Primers
  • Electron Transport (genetics)
  • Electrophoresis, Polyacrylamide Gel
  • Female
  • Genes, Recessive
  • Humans
  • Muscle, Skeletal (metabolism)
  • Mutation
  • Siblings

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: